Canonical Allele Identifier: CA384901490

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1695975
• ClinVar RCV Id: RCV002266126
• dbSNP Id: rs2139073933
• MyVariant Identifiers: chr12:g.52309231A>G (hg19) ; chr12:g.51915447A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915447A>G , CM000674.2:g.51915447A>G	GRCh38
NC_000012.11:g.52309231A>G , CM000674.1:g.52309231A>G	GRCh37
NC_000012.10:g.50595498A>G	NCBI36
NG_009549.1:g.13030A>G , LRG_543:g.13030A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.725A>G	ENSP00000446724.2:p.Lys242Arg
ENST00000551576.6:c.995A>G	ENSP00000455848.2:p.Lys332Arg
ENST00000552678.2:c.995A>G	ENSP00000457394.2:p.Lys332Arg
ENST00000388922.9:c.995A>G MANE Select	ENSP00000373574.4:p.Lys332Arg
ENST00000388922.8:c.995A>G	ENSP00000373574.4:p.Lys332Arg
ENST00000419526.6:c.473A>G	ENSP00000392492.2:p.Lys158Arg
ENST00000550683.5:c.1037A>G	ENSP00000447884.1:p.Lys346Arg
NM_000020.2:c.995A>G , LRG_543t1:c.995A>G	NP_000011.2:p.Lys332Arg
NM_001077401.1:c.995A>G	NP_001070869.1:p.Lys332Arg
XM_005269235.2:c.995A>G	XP_005269292.1:p.Lys332Arg
XM_011539008.1:c.725A>G	XP_011537310.1:p.Lys242Arg
XM_024449279.1:c.206A>G	XP_024305047.1:p.Lys69Arg
NM_000020.3:c.995A>G MANE Select	NP_000011.2:p.Lys332Arg
NM_001077401.2:c.995A>G	NP_001070869.1:p.Lys332Arg